|Institutional Source||Beutler Lab|
|Gene Name||SMAD family member 1|
|Synonyms||Madh1, Smad 1, Madr1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3791 (G1)|
|Chromosomal Location||79338395-79399518 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 79339770 bp|
|Amino Acid Change||Arginine to Leucine at position 426 (R426L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000071035 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066091] [ENSMUST00000109885]|
|Predicted Effect||probably damaging
AA Change: R426L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R426L
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired allantois formation resulting in the lack of a placenta, and die around embryonic day 9-10. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smad1||
(F):5'- AAGTACATGCAAGGCTCGATAG -3'
(R):5'- TGACAAAATGGGTCATCTGGGG -3'
(F):5'- ACATGCAAGGCTCGATAGTTTGC -3'
(R):5'- TCCCAACATTTACCGACTACATATG -3'